ClinVar Miner

List of variants studied for Marshall syndrome; Stickler syndrome type 2 by Department of Paediatrics and Adolescent Medicine, The University of Hong Kong

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Total variants: 1
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HGVS dbSNP gnomAD frequency
NM_001854.4(COL11A1):c.3115G>A (p.Gly1039Ser) rs764282256

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